Mucopolysaccharidosis, Type Iiid (MPS3D)

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OMIM 57 252940 Orphanet 59 ORPHA79272 ICD10 via Orphanet 34 E76.2 UMLS via Orphanet 74 C0086650

MedGen 42 C0086650 MeSH 44 D009084 SNOMED-CT via HPO 69 258211005 40159009 103276001 15188001 343087000 95828007 95515009 708670007 95427009 253207002 44548000 249699000 254069004 65327002 399939002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 8011004 203598005 385522000 55033002 57048009 7890003 88565003 84445001 16294009 90145001 267060006 62315008 288939007 40739000 48610005 80515008 275295002 53827007 62718007 53888004 195708003 252157006 255314001 more UMLS 73 C0086650

NIH Rare Diseases : ⁵³ Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzymeN-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidosis iii, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase). Affiliated tissues include skin, liver and bone, and related phenotypes are low-set ears and short neck

OMIM : ⁵⁷ The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940)

UniProtKB/Swiss-Prot : ⁷⁵ Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : ⁷⁶ Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

Clinical features from OMIM:

252940

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